Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aamina Shakir"'
Publikováno v:
JACC: Case Reports, Vol 18, Iss , Pp 101922- (2023)
Dextroposition is a rare cardiac malformation defined as heart shift to right of midline. ECG findings vary with degree of displacement within the chest cavity. We report the second known case of dextroposition with accessory pathway (posteroseptal i
Externí odkaz:
https://doaj.org/article/a5bb73ff3fcf42cfb8d32c5e0aedbbed
Publikováno v:
Current problems in cardiology.
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused most commonly by mutations in the gene coding for LDL receptors. This results in increased circulating cholesterol, and clinical consequences of premature stroke, myocardial i
Publikováno v:
Heart Rhythm. 20:S691-S692
Publikováno v:
Journal of the American College of Cardiology. 81:3854
Publikováno v:
Journal of Medical Cases
Aplastic anemia (AA) is a bone marrow failure syndrome of pancytopenia due to impaired hematopoiesis. It is strongly associated with paroxysmal nocturnal hemoglobinuria (PNH). Each condition can cause the other, or occur simultaneously. There are no
Publikováno v:
Genetics in Medicine. 20:470-473
PurposeThe Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient's phenotype, by mining OMIM for gene entries that contain a Clinical Synopsis. However, the tool cannot identify gen
Publikováno v:
Clinical Case Reports
Key Clinical Message We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report
Autor:
Aamina Shakir, Zain Ul Abideen Asad, Shari Clifton, Jessica Reese, Arsalan Khan, Abhishek Deshmukh
Publikováno v:
Journal of the American College of Cardiology. 77:152
Publikováno v:
Journal of Cancer Science & Therapy. 10